Human ?-synuclein is a 140 amino acid protein with little or no secondary structure. The ?-synuclein is expressed at high levels in the brain and enriched in neural synaptic terminals but its physiological function remains largely unknown. More recently, ?-synuclein has been shown to be one of the principal componets of Lewy bodies, neuronal inclusions that are found in diverse human neurodegen...

Diffuse anterior retinoblastoma is a rare variant of retinoblastoma seeding in the area of the vitreous base and anterior chamber. Patients with diffuse anterior retinoblastoma are older than those with the classical types, with the mean age being 6.1 years. The original cells of diffuse anterior retinoblastoma are supposed to be cone precursor. Patients most commonly present with pseudouveitis...

The diffuse follicular variant of papillary thyroid carcinoma (DFV-PTC) is a rare malignant thyroid condition. It represents an uncommon variant of papillary carcinoma characterized by a diffuse involvement of thyroid parenchyma, follicular architecture and nuclear features of PTC in absence of a surrounding capsule. Up to date few data have been collected about this entity and, at the best of ...

BACKGROUND Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted. CASE This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination of mutations...

BACKGROUND Plasmablastic lymphoma (PBL) is a relatively new entity, classified by WHO as a rare variant of diffuse large B cell lymphoma. The present case report introduces a 17 year old girl with chronic diarrhea, abdominal pain, intra-abdominal venous thromboses, ascites, mesenteric lymphadenopathies and small intestinal polyposis, the pathologic and immunohistochemistric examinations of the ...

Vertebral osteomyelitis is a common pathology affecting the spine. We present the case of a 46-year-old male who was diagnosed with progressive L2 vertebral osteomyelitis due to a rare pathogen, Granulicatella adiacens. Granulicatella adiacens is part of the normal body flora and is often difficult to culture on traditional mediums. The patient required a lateral corpectomy and posterior fixati...

Here, we characterize a new K(+) channel-kinase complex that operates in the metazoan Caenorhabditis elegans to control learning behaviour. This channel is composed of a pore-forming subunit, dubbed KHT-1 (73% homology to human Kv3.1), and the accessory subunit MPS-1, which shows kinase activity. Genetic, biochemical and electrophysiological evidence show that KHT-1 and MPS-1 form a complex in ...

In this article, we present a case of diffuse follicular variant papillary thyroid carcinoma with pituitary metastasis, which is rare cause metastasis. The an uncommon carcinoma. A 74-year-old male was presented weakness, fatigue, and decreased appetite. patient diagnosed secondary adrenal insufficiencies. Imaging revealed mass suprasellar extension, right cavernous sinus invasion, optic chiasm...